Entrez gene ID | | 23385 |
Official gene symbol | | NCSTN |
Full name | | nicastrin |
Aliases | | ,APH2,KIAA0253, |
Gene summary | | This gene encodes a Type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q22-q23 |
Gene position | | 160313063 - 160328742 Map Viewer |
Gene orientation | | plus |
Gene size | | 15680 bp |
Gene sequence |
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OMIM ID | | 605254 |
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